ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs) (rs1557135901)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144754 SCV000190968 pathogenic not provided 2014-07-25 criteria provided, single submitter clinical testing The c.1007_1097del91ins12 mutation in the MECP2 gene causes a frameshift starting with codon Leucine 336, changes this amino acid to a Proline residue and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Leu336ProfsX47. This mutation is predicted to cause loss of normal protein function through protein truncation, as the last 151 amino acids of the MECP2 protein are lost and replaced with 46 incorrect amino acids. Although this mutation has not been previously reported to our knowledge, other frameshift mutations in this region of the protein have been reported in association with Rett syndrome. The variant is found in EPILEPSY panel(s).

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